In previous studies, the MFSD8 gene mutations were the most common genetic cause of variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), also termed as ceroid lipofuscinosis neuronal 7 disease (CLN7, OMIM 610951), which had an onset age of 1.5 to 5 years [17]. Here, MFSD8 is linked to neuronal ceroid lipofuscinosis.